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CompletedNCT01312727NTIHUpdated Dec 1, 2025

Hereditary Tubulointerstitial Nephritis

An interventional study of Blood and urine sample collections in Nephritis, Interstitial, Chronic Renal Failure and Gout, sponsored by Assistance Publique - Hôpitaux de Paris. Completed at 1 site in France. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2025-12-01.

Sponsored by Assistance Publique - Hôpitaux de Paris · Not applicable, Interventional, and Screening

Phase
Not applicable
Study type
Interventional
Enrollment
225
Allocation
Not applicable
Ages
18 Years and older
Sex
All
01

Study summary

The aim of this study is to identify families with hereditary chronic tubulointerstitial renal diseases , characterize the phenotype and screen for mutations in known genesis (UMOD, REN, TCF2, NPHP1). Genome wide analysis will be performed in families without mutations identified.

Read the detailed description
  • Inclusion of affected subjects with familial history of chronic renal failure, early gout ,renal cysts in several hospital in France
  • Characterization of the phenotype; dosage of the urinary uromodulin in all subjects
  • Collect DNA samples
  • Screen for UMO mutations first
  • Then for REN or TCF2 depending on the phenotype
  • Validate the use of the dosage of urinary uromodulin for the diagnosis of UMOD associated disease.
  • Identify new genes responsible for hereditary HTIN (Hereditary Tubulointerstitial Nephritis).
02

Conditions studied

  • Nephritis, Interstitial
  • Chronic Renal Failure
  • Gout
  • Renal Cysts

Keywords

  • Tubulointerstitial renal diseases
  • Hereditary renal diseases
  • Uromodulin
  • Renin gene
03

In context

Kidney Failure, Chronic

2,085 studies on the registry are indexed under Kidney Failure, Chronic; 260 are open to participants now.

This study's enrollment of 225 is above the median of 55 across 1,557 interventional studies indexed under Kidney Failure, Chronic.

Browse Kidney Failure, Chronic studies →

Lead sponsor

Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,505 studies on the registry; 1,006 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
No

Inclusion criteria

  • Age ≥ 18 years.
  • HTIN of unknown cause
  • Chronic renal failure defined by a eGFR (estimated Glomerular Filtration Rate) estimated according to MDRD (Modification of the Diet in Renal Disease) \< 60ml / min / 1,73m2.
  • At least two siblings affected by gout before 40 years or by chronic renal failure.
  • Affiliated or benefiting from a national insurance
  • Signature of the enlightened consent.

Exclusion criteria

Exclusion Criteria:

  • Endstage renal failure before the age of 18 years in all affected subjects of the family.
  • Microscopic or macroscopic persistent hematuria, or proteinuria > 1gramme / 24hours.
  • Other potential cause of TIN (Tubulointerstitial Nephritis): pyelonephritis, drug toxicity.
  • High blood pressure known for more than 10 years before the discovery of the renal disease.
  • Major cardiovascular before the discovery of the renal disease.
  • Chronic auto-immune or infectious disease.
  • Polycystic kidney disease with increased of the size of the kidneys
05

Study design

Phase
Not applicable
Primary purpose
Screening
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrollment
225 participants (actual)

Study arms

  • Other
    HTIN

    HTIN

    Other: Blood and urine sample collections

Interventions

  • OtherBlood and urine sample collections

    phenotype and genotype analysis, biological analysis

    Also known as: phenotype and genotype analysis, biological analysis

06

What researchers measure

Primary outcomes

  1. Genotype of HTIN

    Number of patients/families with mutations in known genes responsible for HTIN

    Time frame: after 18 months

Secondary outcomes

  1. Uromodulin dosage in urine

    Time frame: at 18 months

07

Study locations

1 site
  • Hôpital Necker Enfants Malades
    Paris, 75015, France
08

References and documents

Publications

  • Saei H, Moriniere V, Heidet L, Gribouval O, Lebbah S, Tores F, Mautret-Godefroy M, Knebelmann B, Burtey S, Vuiblet V, Antignac C, Nitschke P, Dorval G. VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease. iScience. 2023 Jun 17;26(7):107171. doi: 10.1016/j.isci.2023.107171. eCollection 2023 Jul 21. PubMed 37456840 ↗
09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Dec 1, 2025, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT01312727
Lead sponsor
Assistance Publique - Hôpitaux de Paris
Collaborators
Institut National de la Santé Et de la Recherche Médicale, France, URC-CIC Paris Descartes Necker Cochin
Responsible party
Sponsor
First posted
Mar 11, 2011
Start date
Nov 2010
Primary completion
Feb 2014
Completion
Jul 2016
Last update
Dec 1, 2025

Study contacts

Bertrand Knebelmann, MD, PhD
principal investigator · Assistance Publique - Hôpitaux de Paris

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Nov 2025. You cannot join it, but the record below documents what was studied.

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